P456S (p.Pro456Ser) variant of ETFDH (Q16134)
P456S (p.Pro456Ser) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P456S (p.Pro456Ser) variant details
- p.Pro456Ser
- rs751821289
- ClinGen CA3122610
- ClinVar RCV000415983
- ClinVar RCV000763116
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.93
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)